ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.638G>A (p.Cys213Tyr)

dbSNP: rs1559604072
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001796767 SCV003483363 pathogenic not provided 2022-04-13 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 213 of the FN1 protein (p.Cys213Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with FN1-related conditions (PMID: 30599297; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 549707). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). For these reasons, this variant has been classified as Pathogenic.
CHU Sainte-Justine Research Center, University of Montreal RCV000754909 SCV000787519 likely pathogenic Spondylometaphyseal dysplasia 2018-05-09 no assertion criteria provided research 6 Individuals with novel FN1 mutations and spondylometaphyseal dysplasia
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001796767 SCV002037270 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796767 SCV002038224 uncertain significance not provided no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.